Somatische Erythrozytose
Die somatische Erythrozytose wird durch somatische Mutationen im JAK2-Gen ausgelöst und ist durch eine solitäre Vermehrung roter Blutzellen gekennzeichnet.
Gliederung
Referenzen:
| 1. |
Dainiak N et. al. (1979) Erythropoietin-dependent primary pure erythrocytosis. [^] |
| 2. |
None (1975) Familial polycythemia. [^] |
| 3. |
Emanuel PD et. al. (1992) Familial and congenital polycythemia in three unrelated families. [^] |
| 4. |
Juvonen E et. al. (1991) Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin. [^] |
| 5. |
Prchal JT et. al. (1985) Autosomal dominant polycythemia. [^] |
| 6. |
Yonemitsu H et al. (1973) Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine. [^] |
| 7. |
None () Familial polycythemia. [^] |
| 8. |
Geary CG et. al. (1967) Benign familial polycythaemia. [^] |
| 9. |
None (1969) Polycythemia resulting from abnormal hemoglobins. [^] |
| 10. |
Cassileth PA et. al. (1966) Benign familial erythrocytosis. Report of three cases and a review of the literature. [^] |
| 11. |
Distelhorst CW et. al. (1981) Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production. [^] |
| 12. |
de la Chapelle A et. al. (1993) Familial erythrocytosis genetically linked to erythropoietin receptor gene. [^] |
| 13. |
Kralovics R et. al. (1997) Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. [^] |
| 14. |
Kralovics R et. al. (1998) Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. [^] |
| 15. |
None (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. [^] |
| 16. |
None (2005) Polycythemia vera and other primary polycythemias. [^] |
| 17. |
Gregg XT et. al. (2005) Recent advances in the molecular biology of congenital polycythemias and polycythemia vera. [^] |
| 18. |
Bento C et. al. (2014) Genetic basis of congenital erythrocytosis: mutation update and online databases. [^] |
